U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.134+1G>C AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 12, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001800397.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.134+1G>C]

NM_007294.4(BRCA1):c.134+1G>C

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.134+1G>C
Other names:
IVS3+1G>C
HGVS:
  • NC_000017.11:g.43115725C>G
  • NG_005905.2:g.102259G>C
  • NM_001407571.1:c.-55+1G>C
  • NM_001407581.1:c.134+1G>C
  • NM_001407582.1:c.134+1G>C
  • NM_001407583.1:c.134+1G>C
  • NM_001407585.1:c.134+1G>C
  • NM_001407587.1:c.134+1G>C
  • NM_001407590.1:c.134+1G>C
  • NM_001407591.1:c.134+1G>C
  • NM_001407593.1:c.134+1G>C
  • NM_001407594.1:c.134+1G>C
  • NM_001407596.1:c.134+1G>C
  • NM_001407597.1:c.134+1G>C
  • NM_001407598.1:c.134+1G>C
  • NM_001407602.1:c.134+1G>C
  • NM_001407603.1:c.134+1G>C
  • NM_001407605.1:c.134+1G>C
  • NM_001407610.1:c.134+1G>C
  • NM_001407611.1:c.134+1G>C
  • NM_001407612.1:c.134+1G>C
  • NM_001407613.1:c.134+1G>C
  • NM_001407614.1:c.134+1G>C
  • NM_001407615.1:c.134+1G>C
  • NM_001407616.1:c.134+1G>C
  • NM_001407617.1:c.134+1G>C
  • NM_001407618.1:c.134+1G>C
  • NM_001407619.1:c.134+1G>C
  • NM_001407620.1:c.134+1G>C
  • NM_001407621.1:c.134+1G>C
  • NM_001407622.1:c.134+1G>C
  • NM_001407623.1:c.134+1G>C
  • NM_001407624.1:c.134+1G>C
  • NM_001407625.1:c.134+1G>C
  • NM_001407626.1:c.134+1G>C
  • NM_001407627.1:c.134+1G>C
  • NM_001407628.1:c.134+1G>C
  • NM_001407629.1:c.134+1G>C
  • NM_001407630.1:c.134+1G>C
  • NM_001407631.1:c.134+1G>C
  • NM_001407632.1:c.134+1G>C
  • NM_001407633.1:c.134+1G>C
  • NM_001407634.1:c.134+1G>C
  • NM_001407635.1:c.134+1G>C
  • NM_001407636.1:c.134+1G>C
  • NM_001407637.1:c.134+1G>C
  • NM_001407638.1:c.134+1G>C
  • NM_001407639.1:c.134+1G>C
  • NM_001407640.1:c.134+1G>C
  • NM_001407641.1:c.134+1G>C
  • NM_001407642.1:c.134+1G>C
  • NM_001407644.1:c.134+1G>C
  • NM_001407645.1:c.134+1G>C
  • NM_001407646.1:c.134+1G>C
  • NM_001407647.1:c.134+1G>C
  • NM_001407648.1:c.134+1G>C
  • NM_001407649.1:c.134+1G>C
  • NM_001407652.1:c.134+1G>C
  • NM_001407653.1:c.134+1G>C
  • NM_001407654.1:c.134+1G>C
  • NM_001407655.1:c.134+1G>C
  • NM_001407656.1:c.134+1G>C
  • NM_001407657.1:c.134+1G>C
  • NM_001407658.1:c.134+1G>C
  • NM_001407659.1:c.134+1G>C
  • NM_001407660.1:c.134+1G>C
  • NM_001407661.1:c.134+1G>C
  • NM_001407662.1:c.134+1G>C
  • NM_001407663.1:c.134+1G>C
  • NM_001407664.1:c.134+1G>C
  • NM_001407665.1:c.134+1G>C
  • NM_001407666.1:c.134+1G>C
  • NM_001407667.1:c.134+1G>C
  • NM_001407668.1:c.134+1G>C
  • NM_001407669.1:c.134+1G>C
  • NM_001407670.1:c.134+1G>C
  • NM_001407671.1:c.134+1G>C
  • NM_001407672.1:c.134+1G>C
  • NM_001407673.1:c.134+1G>C
  • NM_001407674.1:c.134+1G>C
  • NM_001407675.1:c.134+1G>C
  • NM_001407676.1:c.134+1G>C
  • NM_001407677.1:c.134+1G>C
  • NM_001407678.1:c.134+1G>C
  • NM_001407679.1:c.134+1G>C
  • NM_001407680.1:c.134+1G>C
  • NM_001407681.1:c.134+1G>C
  • NM_001407682.1:c.134+1G>C
  • NM_001407683.1:c.134+1G>C
  • NM_001407684.1:c.134+1G>C
  • NM_001407685.1:c.134+1G>C
  • NM_001407686.1:c.134+1G>C
  • NM_001407687.1:c.134+1G>C
  • NM_001407688.1:c.134+1G>C
  • NM_001407689.1:c.134+1G>C
  • NM_001407690.1:c.134+1G>C
  • NM_001407691.1:c.134+1G>C
  • NM_001407692.1:c.-7-9192G>C
  • NM_001407694.1:c.-124+1G>C
  • NM_001407695.1:c.-128+1G>C
  • NM_001407696.1:c.-124+1G>C
  • NM_001407697.1:c.-8+1G>C
  • NM_001407698.1:c.-8+8292G>C
  • NM_001407724.1:c.-124+1G>C
  • NM_001407725.1:c.-8+1G>C
  • NM_001407726.1:c.-8+5833G>C
  • NM_001407727.1:c.-124+1G>C
  • NM_001407728.1:c.-8+1G>C
  • NM_001407729.1:c.-8+1G>C
  • NM_001407730.1:c.-8+1G>C
  • NM_001407731.1:c.-124+1G>C
  • NM_001407732.1:c.-8+8292G>C
  • NM_001407733.1:c.-124+1G>C
  • NM_001407734.1:c.-8+1G>C
  • NM_001407735.1:c.-8+1G>C
  • NM_001407736.1:c.-8+8292G>C
  • NM_001407737.1:c.-8+1G>C
  • NM_001407738.1:c.-8+8292G>C
  • NM_001407739.1:c.-8+1G>C
  • NM_001407740.1:c.-8+1G>C
  • NM_001407741.1:c.-8+1G>C
  • NM_001407742.1:c.-8+8292G>C
  • NM_001407743.1:c.-8+1G>C
  • NM_001407744.1:c.-8+8292G>C
  • NM_001407745.1:c.-8+1G>C
  • NM_001407746.1:c.-124+1G>C
  • NM_001407747.1:c.-7-9192G>C
  • NM_001407748.1:c.-8+1G>C
  • NM_001407749.1:c.-124+1G>C
  • NM_001407750.1:c.-8+8292G>C
  • NM_001407751.1:c.-8+5833G>C
  • NM_001407752.1:c.-8+1G>C
  • NM_001407838.1:c.-8+1G>C
  • NM_001407839.1:c.-8+1G>C
  • NM_001407841.1:c.-8+5G>C
  • NM_001407842.1:c.-124+1G>C
  • NM_001407843.1:c.-124+1G>C
  • NM_001407844.1:c.-8+1G>C
  • NM_001407845.1:c.-8+8292G>C
  • NM_001407846.1:c.-8+1G>C
  • NM_001407847.1:c.-8+1G>C
  • NM_001407848.1:c.-8+1G>C
  • NM_001407849.1:c.-8+8292G>C
  • NM_001407850.1:c.-8+1G>C
  • NM_001407851.1:c.-8+1G>C
  • NM_001407852.1:c.-8+8292G>C
  • NM_001407853.1:c.-55+1G>C
  • NM_001407854.1:c.134+1G>C
  • NM_001407858.1:c.134+1G>C
  • NM_001407859.1:c.134+1G>C
  • NM_001407860.1:c.134+1G>C
  • NM_001407861.1:c.134+1G>C
  • NM_001407862.1:c.134+1G>C
  • NM_001407863.1:c.134+1G>C
  • NM_001407874.1:c.134+1G>C
  • NM_001407875.1:c.134+1G>C
  • NM_001407879.1:c.-55+1G>C
  • NM_001407881.1:c.-55+8292G>C
  • NM_001407882.1:c.-55+1G>C
  • NM_001407884.1:c.-55+1G>C
  • NM_001407885.1:c.-55+1G>C
  • NM_001407886.1:c.-55+1G>C
  • NM_001407887.1:c.-55+1G>C
  • NM_001407889.1:c.-171+1G>C
  • NM_001407894.1:c.-55+1G>C
  • NM_001407895.1:c.-55+1G>C
  • NM_001407896.1:c.-55+1G>C
  • NM_001407897.1:c.-55+1G>C
  • NM_001407898.1:c.-55+8292G>C
  • NM_001407899.1:c.-55+1G>C
  • NM_001407900.1:c.-171+1G>C
  • NM_001407902.1:c.-55+8292G>C
  • NM_001407904.1:c.-55+1G>C
  • NM_001407906.1:c.-55+1G>C
  • NM_001407907.1:c.-55+1G>C
  • NM_001407908.1:c.-55+1G>C
  • NM_001407909.1:c.-55+1G>C
  • NM_001407910.1:c.-55+1G>C
  • NM_001407915.1:c.-55+1G>C
  • NM_001407916.1:c.-55+1G>C
  • NM_001407917.1:c.-55+1G>C
  • NM_001407918.1:c.-55+1G>C
  • NM_001407919.1:c.134+1G>C
  • NM_001407920.1:c.-8+1G>C
  • NM_001407921.1:c.-8+1G>C
  • NM_001407922.1:c.-8+1G>C
  • NM_001407923.1:c.-8+1G>C
  • NM_001407924.1:c.-8+8292G>C
  • NM_001407925.1:c.-8+8292G>C
  • NM_001407926.1:c.-8+1G>C
  • NM_001407927.1:c.-8+1G>C
  • NM_001407928.1:c.-8+8292G>C
  • NM_001407929.1:c.-8+8292G>C
  • NM_001407930.1:c.-124+1G>C
  • NM_001407931.1:c.-7-9192G>C
  • NM_001407932.1:c.-8+8292G>C
  • NM_001407933.1:c.-8+1G>C
  • NM_001407934.1:c.-8+1G>C
  • NM_001407935.1:c.-8+1G>C
  • NM_001407936.1:c.-8+8292G>C
  • NM_001407937.1:c.134+1G>C
  • NM_001407938.1:c.134+1G>C
  • NM_001407939.1:c.134+1G>C
  • NM_001407940.1:c.134+1G>C
  • NM_001407941.1:c.134+1G>C
  • NM_001407942.1:c.-124+1G>C
  • NM_001407943.1:c.-8+1G>C
  • NM_001407944.1:c.-8+1G>C
  • NM_001407945.1:c.-8+8292G>C
  • NM_001407946.1:c.-55+1G>C
  • NM_001407947.1:c.-55+1G>C
  • NM_001407948.1:c.-55+1G>C
  • NM_001407949.1:c.-55+1G>C
  • NM_001407950.1:c.-55+1G>C
  • NM_001407951.1:c.-55+1G>C
  • NM_001407952.1:c.-55+1G>C
  • NM_001407953.1:c.-55+1G>C
  • NM_001407954.1:c.-55+1G>C
  • NM_001407955.1:c.-55+1G>C
  • NM_001407956.1:c.-55+1G>C
  • NM_001407957.1:c.-55+1G>C
  • NM_001407958.1:c.-55+1G>C
  • NM_001407959.1:c.-170+9552G>C
  • NM_001407960.1:c.-170+1G>C
  • NM_001407962.1:c.-170+1G>C
  • NM_001407963.1:c.-170+9546G>C
  • NM_001407964.1:c.-8+1G>C
  • NM_001407965.1:c.-286+1G>C
  • NM_001407966.1:c.-219+9546G>C
  • NM_001407967.1:c.-219+9552G>C
  • NM_001407968.1:c.134+1G>C
  • NM_001407969.1:c.134+1G>C
  • NM_001407970.1:c.134+1G>C
  • NM_001407971.1:c.134+1G>C
  • NM_001407972.1:c.134+1G>C
  • NM_001407973.1:c.134+1G>C
  • NM_001407974.1:c.134+1G>C
  • NM_001407975.1:c.134+1G>C
  • NM_001407976.1:c.134+1G>C
  • NM_001407977.1:c.134+1G>C
  • NM_001407978.1:c.134+1G>C
  • NM_001407979.1:c.134+1G>C
  • NM_001407980.1:c.134+1G>C
  • NM_001407981.1:c.134+1G>C
  • NM_001407982.1:c.134+1G>C
  • NM_001407983.1:c.134+1G>C
  • NM_001407984.1:c.134+1G>C
  • NM_001407985.1:c.134+1G>C
  • NM_001407986.1:c.134+1G>C
  • NM_001407990.1:c.134+1G>C
  • NM_001407991.1:c.134+1G>C
  • NM_001407992.1:c.134+1G>C
  • NM_001407993.1:c.134+1G>C
  • NM_001408392.1:c.134+1G>C
  • NM_001408396.1:c.134+1G>C
  • NM_001408397.1:c.134+1G>C
  • NM_001408398.1:c.134+1G>C
  • NM_001408399.1:c.134+1G>C
  • NM_001408400.1:c.134+1G>C
  • NM_001408401.1:c.134+1G>C
  • NM_001408402.1:c.134+1G>C
  • NM_001408403.1:c.134+1G>C
  • NM_001408404.1:c.134+1G>C
  • NM_001408406.1:c.134+1G>C
  • NM_001408407.1:c.134+1G>C
  • NM_001408408.1:c.134+1G>C
  • NM_001408409.1:c.134+1G>C
  • NM_001408410.1:c.-8+1G>C
  • NM_001408411.1:c.134+1G>C
  • NM_001408412.1:c.134+1G>C
  • NM_001408413.1:c.134+1G>C
  • NM_001408414.1:c.134+1G>C
  • NM_001408415.1:c.134+1G>C
  • NM_001408416.1:c.134+1G>C
  • NM_001408418.1:c.134+1G>C
  • NM_001408419.1:c.134+1G>C
  • NM_001408420.1:c.134+1G>C
  • NM_001408421.1:c.134+1G>C
  • NM_001408422.1:c.134+1G>C
  • NM_001408423.1:c.134+1G>C
  • NM_001408424.1:c.134+1G>C
  • NM_001408425.1:c.134+1G>C
  • NM_001408426.1:c.134+1G>C
  • NM_001408427.1:c.134+1G>C
  • NM_001408428.1:c.134+1G>C
  • NM_001408429.1:c.134+1G>C
  • NM_001408430.1:c.134+1G>C
  • NM_001408431.1:c.134+1G>C
  • NM_001408432.1:c.134+1G>C
  • NM_001408433.1:c.134+1G>C
  • NM_001408434.1:c.134+1G>C
  • NM_001408435.1:c.134+1G>C
  • NM_001408436.1:c.134+1G>C
  • NM_001408437.1:c.134+1G>C
  • NM_001408438.1:c.134+1G>C
  • NM_001408439.1:c.134+1G>C
  • NM_001408440.1:c.134+1G>C
  • NM_001408441.1:c.134+1G>C
  • NM_001408442.1:c.134+1G>C
  • NM_001408443.1:c.134+1G>C
  • NM_001408444.1:c.134+1G>C
  • NM_001408445.1:c.134+1G>C
  • NM_001408446.1:c.134+1G>C
  • NM_001408447.1:c.134+1G>C
  • NM_001408448.1:c.134+1G>C
  • NM_001408450.1:c.134+1G>C
  • NM_001408451.1:c.80+8292G>C
  • NM_001408452.1:c.-8+1G>C
  • NM_001408453.1:c.-8+1G>C
  • NM_001408454.1:c.-8+8292G>C
  • NM_001408455.1:c.-124+1G>C
  • NM_001408456.1:c.-124+1G>C
  • NM_001408457.1:c.-7-9192G>C
  • NM_001408458.1:c.-8+1G>C
  • NM_001408459.1:c.-8+8292G>C
  • NM_001408460.1:c.-8+8292G>C
  • NM_001408461.1:c.-8+8292G>C
  • NM_001408462.1:c.-8+1G>C
  • NM_001408463.1:c.-8+1G>C
  • NM_001408464.1:c.-8+8292G>C
  • NM_001408465.1:c.-128+1G>C
  • NM_001408466.1:c.-8+1G>C
  • NM_001408467.1:c.-8+8292G>C
  • NM_001408468.1:c.-124+1G>C
  • NM_001408469.1:c.-8+1G>C
  • NM_001408470.1:c.-8+1G>C
  • NM_001408472.1:c.134+1G>C
  • NM_001408473.1:c.134+1G>C
  • NM_001408474.1:c.134+1G>C
  • NM_001408475.1:c.134+1G>C
  • NM_001408476.1:c.134+1G>C
  • NM_001408478.1:c.-55+1G>C
  • NM_001408479.1:c.-55+1G>C
  • NM_001408480.1:c.-55+1G>C
  • NM_001408481.1:c.-55+1G>C
  • NM_001408482.1:c.-55+1G>C
  • NM_001408483.1:c.-55+1G>C
  • NM_001408484.1:c.-55+1G>C
  • NM_001408485.1:c.-55+1G>C
  • NM_001408489.1:c.-55+1G>C
  • NM_001408490.1:c.-55+1G>C
  • NM_001408491.1:c.-55+1G>C
  • NM_001408492.1:c.-171+1G>C
  • NM_001408493.1:c.-55+1G>C
  • NM_001408494.1:c.134+1G>C
  • NM_001408495.1:c.134+1G>C
  • NM_001408496.1:c.-8+8292G>C
  • NM_001408497.1:c.-8+1G>C
  • NM_001408498.1:c.-8+8292G>C
  • NM_001408499.1:c.-8+1G>C
  • NM_001408500.1:c.-8+1G>C
  • NM_001408501.1:c.-124+1G>C
  • NM_001408502.1:c.-55+1G>C
  • NM_001408503.1:c.-8+1G>C
  • NM_001408504.1:c.-8+1G>C
  • NM_001408505.1:c.-8+1G>C
  • NM_001408506.1:c.-55+1G>C
  • NM_001408507.1:c.-55+1G>C
  • NM_001408508.1:c.-55+1G>C
  • NM_001408509.1:c.-55+1G>C
  • NM_001408510.1:c.-170+1G>C
  • NM_001408511.1:c.-7-9192G>C
  • NM_001408512.1:c.-170+1G>C
  • NM_001408513.1:c.-55+1G>C
  • NM_001408514.1:c.-55+1G>C
  • NM_007294.4:c.134+1G>CMANE SELECT
  • NM_007297.4:c.-8+8292G>C
  • NM_007298.4:c.134+1G>C
  • NM_007299.4:c.134+1G>C
  • NM_007300.4:c.134+1G>C
  • LRG_292t1:c.134+1G>C
  • LRG_292:g.102259G>C
  • NC_000017.10:g.41267742C>G
  • NM_007294.3:c.134+1G>C
  • U14680.1:n.253+1G>C
Links:
Breast Cancer Information Core (BIC) (BRCA1): 253+1&base_change=G to C; dbSNP: rs80358043
NCBI 1000 Genomes Browser:
rs80358043
Molecular consequence:
  • NM_001407692.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5833G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5833G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.-8+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9552G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9546G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9546G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9552G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.-128+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.-171+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.-171+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.-170+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.-170+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.-286+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.-128+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.-171+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.-170+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.-170+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408513.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408514.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002046865Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Apr 12, 2021) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant is located in a canonical splice-donor site and interferes with normal BRCA1 mRNA splicing. To the best of our knowledge, this variant has not been reported in individuals affected with BRCA1-related diseases in the published literature. One functional study showed this variant apparently lost functional activity in a large-scale study using a haploid cell line (PMID: 30209399 (2018)). This variant has not been reported in large, multi-ethnic general populations. Internal laboratory data indicates that this variant was detected in an individual with a phenotype consistent with disease. Based on the available information, this variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024